U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > STT3A-congenital disorder of glycosylation

STT3A-congenital disorder of glycosylation

Synonyms
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL RECESSIVE; Congenital disorder of glycosylation type 1w; STT3A-CDG
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

STT3A-CDG is a form of congenital disorders of N-linked glycosylation characterized by developmental delay, intellectual disability, failure to thrive, hypotonia and seizures. STT3A-CDG is caused by mutations in the gene <i>STT3A</i> (11q23.3). [from ORDO]

Available tests

14 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (14 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CDG1WAD, CDG1WAR, ITM1, STT3-A, TMC, STT3A
    Summary: STT3 oligosaccharyltransferase complex catalytic subunit A

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

Show allHide all

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.